A46T (p.Ala46Thr) variant of DRD2 (D(2) dopamine receptor)
A46T (p.Ala46Thr) in DRD2 (D(2) dopamine receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- rs374010633
- cosmic curated COSV60758
- ESP rs374010633
- ExAC rs374010633
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.18
- MetaLR 0.05
- MetaSVM -1.03
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available